Abnormality of the skeletal system, and Broad nasal tip

Diseases related with Abnormality of the skeletal system and Broad nasal tip

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Broad nasal tip that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME


Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.

MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME Is also known as mmcat syndrome

Related symptoms:

  • Depressivity
  • Posteriorly rotated ears
  • Telecanthus
  • Abnormality of the eye
  • Coloboma


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME

Low match BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2


Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) or Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009).For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.

Related symptoms:

  • Cryptorchidism
  • Anteverted nares
  • Obesity
  • Hyperhidrosis
  • Smooth philtrum


SOURCES: OMIM MENDELIAN

More info about BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2

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Other less relevant matches:

Low match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Low match PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

Low match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Low match 1P21.3 MICRODELETION SYNDROME


1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

Low match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Low match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Broad nasal tip

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Broad nasal tip. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Obesity Poor speech Delayed speech and language development Generalized hypotonia Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases


Language impairment Cryptorchidism Short philtrum Periorbital fullness Low anterior hairline Self-mutilation Wide nasal bridge Strabismus Ectodermal dysplasia Single transverse palmar crease Downslanted palpebral fissures Behavioral abnormality Short nose Thick vermilion border Sparse hair Anteverted nares Hyperactivity Broad forehead Motor delay Intellectual disability, mild Prominent forehead Intellectual disability, moderate Short stature Deeply set eye Small for gestational age Posteriorly rotated ears Aggressive behavior Telecanthus Wide mouth Astigmatism Large forehead Full cheeks Abnormality of the pinna Absent speech Blindness Hypoplasia of the corpus callosum Speech apraxia Joint hypermobility Micrognathia Visual impairment Abnormality of vision Myopia Seizures Abnormal eating behavior Shyness Long ear Autistic behavior Self-injurious behavior Prominent nasal bridge Pain Abnormality of the cerebral white matter Conjunctivitis Inappropriate laughter Scarring Pectus carinatum Anal atresia Bulbous nose Short palpebral fissure Dermal atrophy Tics Abnormality of the sternum Aplasia cutis congenita Absent eyelashes Distichiasis Multiple rows of eyelashes Absent lower eyelashes Long toe Fair hair Synophrys Hypoplasia of the pons Thick eyebrow Epileptic encephalopathy Narrow forehead Hypsarrhythmia Long eyelashes Cerebral visual impairment Intellectual disability, severe Long palpebral fissure Thin upper lip vermilion Neonatal hypotonia Blepharophimosis Hypermetropia Fine hair Narrow palpebral fissure Long fingers Delayed ability to walk Autism Relative macrocephaly Hyperhidrosis Abnormality of the kidney High forehead Frontal bossing Intrauterine growth retardation Ptosis Urethral stenosis Anhidrotic ectodermal dysplasia Small earlobe Absent nipple Hypoplastic nipples Widely spaced teeth Bilateral single transverse palmar creases Highly arched eyebrow Smooth philtrum Chorioretinal degeneration Abnormality of the thyroid gland Posterior subcapsular cataract Chorioretinal atrophy Microcornea Wide nose Coloboma Abnormality of the eye Depressivity Long foot Dental crowding Thick lower lip vermilion Coarse facial features Kyphoscoliosis Scoliosis Wide anterior fontanel Epicanthus inversus Delayed gross motor development Aplasia cutis congenita of scalp Drooling Stereotypy Open mouth Apraxia Delayed myelination Attention deficit hyperactivity disorder Irritability Anxiety Retrognathia Failure to thrive Nystagmus Symmetrical, oval parietal bone defects Wide nasal ridge Parietal foramina Diastema Metopic synostosis Broad columella Depressed nasal tip Bilateral cryptorchidism Sparse eyebrow Narrow palate Broad thumb Encephalocele Brachycephaly Alopecia Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Premature posterior fontanelle closure Absent/hypoplastic paranasal sinuses Abnormality of the skull base Aged leonine appearance



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